Kreis, Roland; Wingeier, Kevin; Vermathen, Peter; Giger, Elisabeth; Joncourt, Franziska; Zwygart, Karin; Kaufmann, Franz; Boesch, Chris; Steinlin, Maja (2011). Brain metabolite composition in relation to cognitive function and dystrophin mutations in boys with Duchenne muscular dystrophy. NMR in biomedicine, 24(3), pp. 253-62. London: Wiley Interscience 10.1002/nbm.1582
Full text not available from this repository.Duchenne muscular dystrophy (DMD) is a hereditary X-linked recessive disorder affecting the synthesis of dystrophin, a protein essential for structural stability in muscle. Dystrophin also occurs in the central nervous system, particularly in the neocortex, hippocampus and cerebellum. Quantitative metabolic analysis by localized (1) H MRS was performed in the cerebellum (12 patients and 15 controls) and a temporo-parietal location (eight patients and 15 controls) in patients with DMD and healthy controls to investigate possible metabolic differences. In addition, the site of individual mutations on the dystrophin gene was analyzed and neuropsychological cognitive functions were examined. Cognitive deficits in the patient group were found in line with earlier investigations, mainly concerning verbal short-term memory, visuo-spatial long-term memory and verbal fluency, but also the full-scale IQ. Causal mutations were identified in all patients with DMD. Quantitative MRS showed consistent choline deficits, in both cerebellar white matter and temporo-parietal cortex, as well as small, but significant, metabolic abnormalities for glutamate and total N-acetyl compounds in the temporo-parietal region. Compartment water analysis did not reveal any abnormalities. In healthy subjects, choline levels were age related in the cerebellum. The choline deficit contrasts with earlier findings in DMD, where a surplus of choline was postulated for the cerebellum. In patients, total N-acetyl compounds in the temporo-parietal region were related to verbal IQ and verbal short-term memory. However, choline, the putative main metabolic abnormality, was not found to be associated with cognitive deficits. Furthermore, in contrast with the cognitive performance, the metabolic brain composition did not depend significantly on whether or not gene mutations concerned the expression of the dystrophin isoform Dp140, leading to the conclusion that the effect of the missing Dp140 isoform on cognitive performance is not mediated through the observed metabolite composition, or is caused by local effects beyond the resolution accessible to MRS investigations.
Item Type: |
Journal Article (Original Article) |
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Division/Institute: |
04 Faculty of Medicine > Department of Radiology, Neuroradiology and Nuclear Medicine (DRNN) > Institute of Diagnostic, Interventional and Paediatric Radiology > DCR Magnetic Resonance Spectroscopy and Methodology (AMSM) 04 Faculty of Medicine > Department of Gynaecology, Paediatrics and Endocrinology (DFKE) > Clinic of Paediatric Medicine |
UniBE Contributor: |
Kreis, Roland, Wingeier, Kevin, Vermathen, Peter, Joncourt, Franziska, Zwygart, Karin, Boesch, Christoph Hans, Steinlin, Maja |
ISSN: |
0952-3480 |
Publisher: |
Wiley Interscience |
Language: |
English |
Submitter: |
Anette van Dorland |
Date Deposited: |
04 Oct 2013 14:09 |
Last Modified: |
02 Mar 2023 23:20 |
Publisher DOI: |
10.1002/nbm.1582 |
PubMed ID: |
21404337 |
Web of Science ID: |
000288400500005 |
URI: |
https://boris.unibe.ch/id/eprint/1198 (FactScience: 202222) |
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